Mismatch repair cancer syndrome 3

Preferred Label : Mismatch repair cancer syndrome 3;

Symbol : MMRCS3;

Type : Phenotype, molecular basis known;

Prefixed ID : #619097;

Details

Origin ID

619097;

UMLS CUI

C5436807;

CISMeF manual mappings
- mismatch repair cancer syndrome 3 [MeSH concept]
Genes related to phenotype
- Muts homolog 6 [OMIM gene]
HPO term(s)
- Astrocytoma [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axillary freckling [HPO term]
- Colon cancer [HPO term]
- Glioblastoma multiforme [HPO term]
- Lisch nodules [HPO term]
- Lymphoma [HPO term]
- Multiple cafe-au-lait spots [HPO term]
- Neoplasm of the rectum [HPO term]
- T-cell lymphoma [HPO term]
ORDO concept(s)
- Constitutional mismatch repair deficiency syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Constitutional mismatch repair deficiency syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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